Human chromosomes – methods of analysis

Question 1

karyotyping:

Answer 1

a test to examine chromosomes in sample of cells, which can help
identify genetic problems as cause of disorder/disease

Question 2

banding technique:

Answer 2

these techniques highlight landmarks along length of
chromosome + specialized staining techniques can be used to highlight particular
regions of chromosomes, such as heterochromatic + repeated-sequence
segments. (C, G, R, Q banding allows accurate pairing, detection of aberrations

Question 3

FISH

Answer 3

fluorescent in situ hybridisation. Molecular cytogenetic technology utilizing
fluorescently labelled DNA probes to detect/confirm gene/chromosome
abnormalities

Question 4

M - FISH

Answer 4

multicolour FISH. p-arm painted green, q-arm red

Question 5

SKY

Answer 5

spectral karyotyping. Spectral karyotyping makes it feasible to diagnose
variety of diseases, because of its technology in painting each of 23 human
chromosomes with different colours

Question 6

mBAND FISH

Answer 6

multi-coloured banded FISH, “CHROMOSOME BAR CODING”

pattern appeared to be more precise than conventional chromosome banding

Question 7

CGH

Answer 7

comparative genomic hybridization. Fluorescent molecular cytogenetic
technique based on quantitative two-color fluorescence in situ hybridization.
Identifies chromosomal abnormalities where there is a Net loss (deletion) or Gain
(duplication, insertion, amplification). Can be applied to fresh or frozen tissues,
cell lines, + archival samples